Root Cause

It’s a medical fact that individual lifestyle choices related to diet and exercise can greatly influence one’s levels of LDL (bad) cholesterol. But for the one in every 250 adults dealing with the genetic disorder known as familial hypercholesterolemia (FH)—a chromosomal defect inherited from one or both parents that prevents the body from removing LDL cholesterol from the blood—an extra mile of jogging or increase in fruits and vegetables won’t substantially bring down an LDL number that may be nudging up to the 200 mark (under 100 is considered normal).

“FH is definitely underdiagnosed and undertreated, and the impact of that is that if you have it, you probably have a five-times-greater chance of developing coronary disease as a result,” says Dr. Ann Davis, a cardiologist at Advocate Health Care. “If you couldn’t change it, this information wouldn’t really matter. But we have medications that can help reduce the risk for those negative outcomes.”

In other words, while an FH diagnosis is certainly not the sort of news you want to receive, having that knowledge can be the impetus to start treating the problem with a statin, a cholesterol absorption inhibitor, or a newer PCSK9 inhibitor. Because the LDL numbers associated with FH are more than just high, they require more than just a little bit of attention. And if you have FH, your kids have a 50 percent chance of inheriting it, too, which makes knowing that much more important.

“Just start by getting your numbers so you’ll be in a better position to figure out what’s going on,” Davis says. “Some people don’t want to find out about FH because they don’t like the idea of going on medication. But I don’t like heart disease, so we’re even,” she jests.